Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes (MELAS) is a rare, multisystem genetic disorder that affects various parts of the body, particularly the brain and the muscular system. It is one of the family of mitochondrial cytopathies, which also includes MERRF syndrome, Kearns-Sayre syndrome, and others. MELAS is caused by mutations in the mitochondrial DNA […]
Neurology Diseases
Symptoms and Testing information for SCA-11 Spinocerebellar Ataxia TTBK2 Gene Mutation Test
Spinocerebellar Ataxia (SCA) encompasses a group of genetic disorders characterized by progressive degeneration of the cerebellum, the part of the brain responsible for coordinating movement. Among the various types, SCA-11 is particularly noteworthy due to its genetic basis in mutations of the TTBK2 gene. This mutation leads to a variety of symptoms that can severely […]
Symptoms and Testing information for SCA-14 Spinocerebellar Ataxia PRKCG Gene Mutation Test
Spinocerebellar Ataxia (SCA) is a term used for a group of hereditary ataxias that are characterized by degenerative changes in the part of the brain related to the control of movement, and often in the spinal cord. Among these, SCA-14 is a type that results from mutations in the PRKCG gene. This particular type of […]
Symptoms and Testing information for SCA-23 Spinocerebellar Ataxia PDYN Gene Mutation Test
In the realm of genetic disorders, Spinocerebellar Ataxia (SCA) stands as a complex group of hereditary conditions that primarily affect the coordination of muscle movements. Among the various types of SCAs, SCA-23, caused by mutations in the PDYN gene, is particularly noteworthy. Understanding the symptoms of SCA-23 is crucial for early diagnosis and management of […]
Symptoms and Testing information for SCA-5 Spinocerebellar Ataxia SPTBN2 Gene Mutation Test
Spinocerebellar Ataxia Type 5 (SCA-5) is a rare, inherited condition that affects the cerebellum, the part of the brain responsible for controlling movement. This condition is caused by mutations in the SPTBN2 gene, which plays a crucial role in the development and maintenance of the cerebellum. Individuals with SCA-5 experience a progressive loss of coordination […]
Symptoms and Testing information for SCA-8 Spinocerebellar Ataxia ATXN8OS and ATXN8 Gene Mutation Test
Spinocerebellar ataxia type 8 (SCA-8) is a genetic disorder characterized by progressive coordination problems and other neurological symptoms. It is caused by mutations in the ATXN8OS and ATXN8 genes. Understanding the symptoms of SCA-8 and the availability of genetic testing can be crucial for individuals and families affected by this condition. DNA Labs UAE offers […]
Symptoms and Testing information for Fragile X Tremor Ataxia Syndrome FXTAS Test
Fragile X Tremor Ataxia Syndrome (FXTAS) is a genetic condition that affects the nervous system, leading to a range of symptoms that can significantly impact an individual’s quality of life. Understanding these symptoms is crucial for early detection and management of the condition. DNA Labs UAE offers a comprehensive FXTAS test, which is essential for […]
Symptoms and Testing information for Leigh Syndrome Mitochondrial Mutation Detection Test
Leigh Syndrome, a severe neurological disorder, manifests through a complex spectrum of symptoms that can perplex both families and healthcare professionals. It is a condition that primarily affects the central nervous system, leading to progressive loss of mental and movement abilities. Recognizing the symptoms early can be crucial for management and treatment. DNA Labs UAE […]
Symptoms and Testing information for Megalencephalic Leukoencephalopathy with Subcortical Cysts Van Der Knaap and Nalband MLC Gene Hotspot Mutation Test
Megalencephalic Leukoencephalopathy with Subcortical Cysts (MLC), identified by Van Der Knaap and Nalband, is a rare genetic disorder that significantly impacts the brain’s white matter. This condition, often detected in early childhood, leads to an array of neurological symptoms and challenges. The disorder is primarily caused by mutations in the MLC1 and HEPACAM genes, which […]
Symptoms and Testing information for DRPLA Dentatorubral-Pallidoluysian Atrophy Gene Analysis Test
In the quest to understand and manage genetic disorders, DNA Labs UAE stands at the forefront, offering a wide range of genetic testing services. Among these, the DRPLA Dentatorubral-Pallidoluysian Atrophy Gene Analysis Test is pivotal for individuals at risk of or showing symptoms of Dentatorubral-Pallidoluysian Atrophy (DRPLA), a rare, hereditary, progressive neurodegenerative disorder. This article […]